Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Background: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms of genetics and phenotype. Consequently, diagnostic process is challenging and before implementation of the next generation sequencing, was mostly symptomatic, not causal, which limited research on those diseases.

Twelve-Month Real-World Use of an Advanced Hybrid Closed-Loop System Versus Previous Therapy in a Dutch Center For Specialized Type 1 Diabetes Care.

Background: Complexity of glucose regulation in persons with type 1 diabetes (PWDs) necessitates increased automation of insulin delivery (AID). This study aimed to analyze real-world data over 12 months from PWDs who started using the MiniMed 780G (MM780G) advanced hybrid closed-loop (aHCL) AID system at the Diabeter clinic, focusing on glucometrics and clinical outcomes.

Methods: Persons with type 1 diabetes switching to the MM780G system were included.

The interdependence of targets for continuous glucose monitoring outcomes in type 1 diabetes with automated insulin delivery.

Aim: The aim was to determine the interdependence of targets for glucose management indicator (GMI), time within the ranges of 70-180 mg/dL (TIR) and 70-140 mg/dL (time in tight glucose range [TITR]), time above 180 mg/dL (TA180) and 250 mg/dL (TA250) and time below 70 mg/dL (TB70) and 54 mg/dL (TB54) and its implications for setting targets in automated insulin delivery (AID).

Materials And Methods: Real-world data from individuals with type 1 diabetes using the 780G system were used to calculate the receiver operating characteristic curves and establish interdependent targets for time in ranges based on several GMI benchmarks. Correlation, regression and principal component analysis were used to determine their association and dimensionality.

Generating real-world evidence on diabetes technology using the CareLink Personal data management system.

Aim: To establish trust in real-world evidence (RWE) derived from CareLink Personal (CP), Medtronic's data management system for MiniMed system users, we show that this database and its analyses strictly adhere to the principles of RWE.

Methods: The methodology is applicable to all MiniMed iterations. We described every step from raw data to predefined outcomes.